Disease-gene associations mined from literature

Literature associating KCNAB2 and amyotrophic lateral sclerosis type 16

KCNAB2 [ENSP00000367323]

Potassium voltage-gated channel, shaker-related subfamily, beta member 2; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore. Promotes KCNA4 channel closure. Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH- dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4- nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity); Aldo-keto reductases

Synonyms:  KCNAB2,  KCNAB2p,  hKCNAB2,  A0A024R4E3,  K7EKU4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM